Genetic and clinical characterization of two families with severe venous thromboembolism due to nonsense mutations in the SERPINC1 gene
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Antithrombin (AT) III is a key physiological anticoagulant, and its hereditary deficiency represents one of the most severe forms of inherited thrombophilia. However, as a rare disorder, AT III deficiency is frequently underdiagnosed due to the limitations of ... ...
